Article
Hypophosphatasia: Vitamin B6 status of affected children and adults.
Bone - 1 Jan 2022
Whyte Michael P, Zhang Fan, Wenkert Deborah, Mack Karen E, Bijanki Vinieth N, Ericson Karen L, Coburn Stephen P
Abstract excerpt
Hypophosphatasia (HPP) is the heritable dento-osseous disease caused by loss-of-function mutation(s) of the gene ALPL that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). TNSALP is a cell-surface homodimeric phosphomonoester phosphohydrolase expressed in healthy people especially in the skeleton, liver, kidneys, and developing teeth. In HPP, diminished TNSALP activity leads to...
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